KEGG   DISEASE: Alkuraya-Kucinskas syndrome
Entry
H02494                      Disease                                
Name
Alkuraya-Kucinskas syndrome
Description
Alkuraya-Kucinskas syndrome is an autosomal recessive syndrome characterized by brain atrophy with clubfoot and arthrogryposis. It has been reported that mutations in ALKKUCS are associated with this syndrome. ALKKUCS is required for synaptic vesicle recycling.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA0Y  Other specified structural developmental anomalies of the nervous system
     H02494  Alkuraya-Kucinskas syndrome
Gene
ALKKUCS [HSA:84162] [KO:K24964]
Other DBs
ICD-11: LA0Y
OMIM: 617822
Reference
PMID:29290337
  Authors
Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistiene L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kucinskas V, Alkuraya FS, Reymond A
  Title
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
  Journal
Am J Hum Genet 102:116-132 (2018)
DOI:10.1016/j.ajhg.2017.12.002
Reference
PMID:19640479
  Authors
Verstreken P, Ohyama T, Haueter C, Habets RL, Lin YQ, Swan LE, Ly CV, Venken KJ, De Camilli P, Bellen HJ
  Title
Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling.
  Journal
Neuron 63:203-15 (2009)
DOI:10.1016/j.neuron.2009.06.017
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